Aliases for DLAT Gene
- Dihydrolipoamide S-Acetyltransferase 2 3 5
- Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex 3 4
- 70 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis 3 4
- E2 Component Of Pyruvate Dehydrogenase Complex 2 3
- Pyruvate Dehydrogenase Complex Component E2 3 4
- M2 Antigen Complex 70 KDa Subunit 3 4
- EC 220.127.116.11 4 56
External Ids for DLAT Gene
Previous HGNC Symbols for DLAT Gene
Previous GeneCards Identifiers for DLAT Gene
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
GeneCards Summary for DLAT Gene
DLAT (Dihydrolipoamide S-Acetyltransferase) is a Protein Coding gene. Diseases associated with DLAT include Pyruvate Dehydrogenase E2 Deficiency and Primary Biliary Cirrhosis. Among its related pathways are Glyoxylate metabolism and glycine degradation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is PDHX.
UniProtKB/Swiss-Prot for DLAT Gene
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.